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Table 1 Clinical features of patients with FARSA-related disorder

From: Fatal systemic disorder caused by biallelic variants in FARSA

  Patient 1 (Present study) Patient 2 (Krenke et al.) Patient 3 (Schuch et al.) Patient 4 (Schuch et al.) Patient 5 (Schuch et al.)
Sex Male Male Female Female Male
Age at last examination Died at 28 months 15 years 17 years Died at 1.3 years Died at 12.9 years
FARSA genotype
 Variant 1 c.1424G > A (R475Q) c.776 T > C (F256L) c.1210C > T (R404C) c.883C > T (R295W) c.829 T > G (F277V)
 Variant 2 c.1040C > T (P347L) c.1230C > A (N410K) c.1254G > C (E418D) c.883C > T (R295W) c.829 T > G (F277V)
Central nervous system
 Neonatal hypotonia + + + +
 Motor delay + + + +
 Speech delay + + +
 Brain imaging Diffuse atrophy and calcifications at both deep grey matter Subcortical calcifications
Periventricular cysts
Multiple subcortical white matter lesions
Elongated brain arteries
Normal by 1 month Arachnoid cyst
Nutrition and growth
 Feeding intolerance + + +
 Poor weight gain + + + + +
 Vomiting and diarrhoea + + +
Lung involvement
 Recurrent respiratory infection + + + + +
 Interstitial lung disease + + + + +
 Cholesterol pneumonitis + + + +
 Cystic lung disease +
 Others      
Renal involvement
 Proteinuria +
 Tubulopathy + +
 Vesicourethral reflux +
 Others Increased renal echogenicity   Nephrolithiasis
Hepatic involvement
 Abnormal liver function + + + + +
 Hepatosplenomegaly + + + +
 Liver steatosis + + + +
 Liver fibrosis +   
Hormonal insufficiency Subclinical hypothyroidism
Adrenal insufficiency
Hypopituitarism Growth hormone resistance Growth hormone deficiency
Dysmorphism/malformation Deep-set eyes, elfin-like face
Skeletal involvement Scoliosis, arachnodactyly, pectus carinatum Hyperflexible joints
Arachnoid fingers
Pectus carinatum, hyperflexible joint
Others Pancytopenia Left inguinal hernia
Microcytic anaemia
Intermittent nystagmus Sensorineural hearing loss